Canonical Allele Identifier: CA2831039878

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381388_48381391dup , CM000675.2:g.48381388_48381391dup	GRCh38
NC_000013.10:g.48955524_48955527dup , CM000675.1:g.48955524_48955527dup	GRCh37
NC_000013.9:g.47853525_47853528dup	NCBI36
NG_009009.1:g.82642_82645dup , LRG_517:g.82642_82645dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1640_1643dup MANE Select	ENSP00000267163.4:p.Lys548AsnfsTer8
ENST00000643064.1:c.139_142dup
ENST00000650461.1:c.1640_1643dup	ENSP00000497193.1:p.Lys548AsnfsTer8
ENST00000267163.4:c.1640_1643dup	ENSP00000267163.4:p.Lys548AsnfsTer8
NM_000321.2:c.1640_1643dup , LRG_517t1:c.1640_1643dup	NP_000312.2:p.Lys548AsnfsTer8
XM_011535171.1:c.1379_1382dup	XP_011533473.1:p.Lys461AsnfsTer8
XM_011535171.2:c.1379_1382dup	XP_011533473.1:p.Lys461AsnfsTer8
NM_000321.3:c.1640_1643dup MANE Select	NP_000312.2:p.Lys548AsnfsTer8